Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)

(2015) Fadil M. Hannan et al.   ENDOCRINOLOGY

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

(2015) Fadil M. Hannan et al.   HUMAN MOLECULAR GENETICS

Universal allosteric mechanism for Gα activation by GPCRs

(2015) Tilman Flock et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Conserved Phenylalanine as a Relay between the α5 Helix and the GDP Binding Region of Heterotrimeric GiProtein α Subunit

(2014) Ali I. Kaya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization

(2014) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism

(2013) Fadil M. Hannan et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Germline Mutations Affecting Gα11 in Hypoparathyroidism

(2013) Michael Mannstadt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

(2013) M. Andrew Nesbit et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Prolactin Receptor and Familial Hyperprolactinemia

(2013) Paul J. Newey et al.   NEW ENGLAND JOURNAL OF MEDICINE

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population

(2012) Tao Guan et al.   GENE

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

(2012) F. M. Hannan et al.   HUMAN MOLECULAR GENETICS

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

(2011) Friedhelm Raue et al.   CLINICAL ENDOCRINOLOGY

Crystal structure of the β2 adrenergic receptor–Gs protein complex

(2011) Søren G. F. Rasmussen et al.   NATURE

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Mutations inGNA11in Uveal Melanoma

(2010) Catherine D. Van Raamsdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Kinetic Scaffolding Mediated by a Phospholipase C-  and Gq Signaling Complex

(2010) G. L. Waldo et al.   SCIENCE

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH